Mutations
CHEK2*1100delC mutation has no major contribution in esophageal carcinogenesis
Published in Gene Therapy Weekly, May 13th, 2004
"In response to DNA damage, the cell cycle checkpoint kinase 2 (CHEK2) may phosphorylate p53, Cdc25A and Cdc25C, and regulate BRCA1 function, leading to cell cycle arrest and DNA repair. The truncating germline mutation CHEK2*1100delC abrogates kinase activity and confers low-penetrance susceptibility to breast cancer," investigators in the Netherlands wrote.
Data show "CHEK2*1100delC in 0.5% of 190 esophageal squamous cell carcinomas and in 1.5% of 196 esophageal adenocarcinomas. In addition," the mutation was observed "in 3.0% of 99 Barrett's metaplasias and 1.5% of...
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Source: Gene Therapy Weekly (2004-05-13)
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